Article
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.
Stem cell research - 1 Oct 2020
Banal Celine, Quelennec Eddy, Bertani-Torres William, Gacem Nadjet, Amiel Jeanne, Marlin Sandrine, Petit Florence, Pingault Veronique, Lefort Nathalie, Bondurand Nadege
Abstract excerpt
Mutations of SOX10 result in a broad range of phenotypes including Waardenburg syndrome (WS types 2 and 4) that can be found in association with peripheral demyelinating neuropathy and/or central dysmyelinating leukodystrophy. Here, we generated induced pluripotent stem cells (iPSCs) from a patient carrying a de novo heterozygous missense mutation in the SOX10 gene (MIM* 602229, NM006941.3c.523C > G; p.Pro175Ala)...
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